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Jacob Knighton

Marfan Syndrome and Emergency Heart Surgery

At the stroke of midnight on Dec. 31, 2005, the mood was far from celebratory in the cardiac surgery waiting room of Children’s Hospital of Pittsburgh of UPMC. The tension was simply too great.

“When the ball went down in Times Square,” said Michelle Knighton. “No one said ‘Happy New Year.’”

Her son, Jacob, was in the midst of emergency heart surgery. Cardiothoracic Surgeon Peter Wearden, MD, PhD, was replacing part of the 10-year-old’s aorta that had ruptured just hours before when the Knighton family was preparing for a quiet New Year’s Eve at home in suburban Pittsburgh. The rapid response of the Knighton family, paramedics, emergency room personnel and the surgical team at Children’s saved Jacob’s life that night.

His broken heart mended, he is alive today and back to normal life, with the exception of not being able to play contact sports like other boys his age. For Jacob, there’s a sad irony to that detail, as it was his drive to play sports that first introduced him to Children’s.

A Syndrome with Genetic Roots

Born with clubfoot in both of his feet, Jacob has had a succession of corrective surgeries throughout his childhood. Coincidentally, he had been a patient at Children’s for another procedure only nine days prior to his emergency New Year’s Eve visit. Orthopedic doctors had placed an external fixator device on his left foot and leg.

Clubfoot, one of the more common congenital conditions, affects bones, muscles and tendons. The heel points downward and the forefoot turns inward. In severe cases, such as Jacob’s, a child learns to walk on his ankles due to the twisted position of the feet.

Competitive by nature, the lanky youngster did not let his condition keep him from sports activities. He started riding dirt bikes at the age of four, according to his mother. More than anything, he wanted to play vigorous sports like football, baseball and basketball. Thanks to the corrective treatments, by the time Jacob was 10, his right foot was appreciably normal, but procedures were still required for his left foot. “He just never gave up. He said ‘I want to play football, basketball, baseball and just be normal,’” explained Mrs. Knighton.

Following application of the fixator, Jacob went home on Christmas Day. Only six days later, as the family was settling in for a New Years Eve dinner, the crisis began. After soaking his foot, he told his mom that he didn’t feel well, so he was resting and watching a movie. He phoned his next-door-neighbor aunt to let her know dinner was almost ready. Suddenly, he started exhibiting signs of a heart attack, according to Mrs. Knighton, a medical assistant.

“He was screaming like I’ve never heard him do before, and he’s grabbing his chest and neck and saying ‘I’ve got pain. The pain’s real bad,’” she said. His eyes rolled back and he passed out. She phoned 911 and managed to revive him before paramedics arrived, but he was gray. The paramedics administered oxygen and said his blood pressure was low.

“I said get him down to Children’s right now.”

Care that Took no Holiday

While heart attacks are rare in children, the Children’s Emergency Room team suspected that due to his recent orthopedic surgery he was suffering pulmonary emboli, blood clots that carried up to and settled in his lungs. That judgment moved Jacob quickly for a CT scan of his chest. What those images showed doctors, however, was not a clot in the lungs, but a surprising hematoma, bleeding around the aorta, and a swollen aortic root.

Cardiologist Jacqueline Kreutzer, MD, was on duty that night. “Nobody knew he had heart disease,” she said. And although Jacob’s condition initially appeared stable, “he was tachycardic and starting to show signs that he was losing blood volume into his chest.” The pericardium, the thin-walled sac that surrounds the heart, was filling with blood, and there was bleeding around the aorta. Moreover, the CT scan showed that the aorta was very enlarged, which is a sign of Marfan syndrome, a connective tissue disorder. An echocardiogram confirmed the CT scan’s findings.

Meanwhile, Dr. Wearden and Victor O. Morell, MD, director of pediatric cardiothoracic surgery, hurried to the hospital to prep for surgery on the failing boy. Although the operation would be risky, without the surgery the outcome was certain.

Before Jacob went into the operating room, his mother told him about what the doctors would do. “I told him he had to fight and fight hard – that I wasn’t done playing with him.”

During the operation, the surgeons found Jacob’s aorta had indeed ruptured in the dilated area. Were it even a slightly larger hole, Jacob likely would not have survived for the trip to the hospital.

In the early hours of that New Year’s Day, the surgical team replaced the dilated and torn aortic root as well as the aortic valve, which was also dilated, using an artificial aortic graft and valve. For his part, Jacob’s recovery was rapid, and ten days later he was discharged home.

“He has been doing beautifully from a cardiac standpoint,” said Dr. Kreutzer, adding that Jacob does not suffer from additional Marfan symptoms, which can include other heart defects, vision problems and skeletal issues, including longer-than-usual bones and misalignment. Doctors believe it is likely Jacob’s clubfoot condition is related to Marfan syndrome.

As the Marfan syndrome is genetic, doctors recommended other family members be checked for the condition. That led to the fortunate discovery that Jacob’s father shares some features of the syndrome affecting his aorta, which in turn has enabled Mr. Knighton’s doctors to monitor his previously unknown condition.

Jacob’s prognosis for the future is good. He takes oral medication to control clotting. He can engage in non-contact sports such as swimming, golf or jogging. The most serious concern in a patient with Marfan is the presence of aortic dilation and its potential for tearing. In Jacob’s case, that hurdle has already been jumped, leaving many days of play ahead.